abnormal retinal cone cell outer segment morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the retinal cone cell region in which the visual pigment rhodopsin is in invaginations of the cell membrane (Mammalian Phenotype Ontology, MP_0008449)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008449
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Genes

6 gene mutations causing the abnormal retinal cone cell outer segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB3 cyclic nucleotide gated channel beta 3
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
PROM1 prominin 1
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A